ANKRD17

History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

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Relevance tier by entity

Entity Tier Description
DLBCL 2 relevance in DLBCL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.68
DLBCL Schmitz cohort 4.26
DLBCL Reddy cohort 3.80
DLBCL Chapuy cohort 2.14

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 2.047 8.897
DLBCL No No 1.492 4.437
FL No No 0.000 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ANKRD17 Expression

Representative Mutations

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Reddy_2262T Reddy_2479T Reddy_2534T Reddy_2629T Reddy_2635T Reddy_2658T Reddy_3419T Reddy_3549T Reddy_3631T Reddy_3700T Reddy_3715T Reddy_3883T Reddy_3913T Reddy_3945T Reddy_3977T

References

  1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.